ConVarT

ClinVar Data

Show entries

Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Frameshift Variant

Inframe Deletion

Missense Variant

Splice Region Variant

Stop Gained

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags
4-24529550-G-C	ENST00000336812	p.Tyr795Ter	Stop Gained	0	0	0	rs1295719352	lc_lof
4-24529555-G-C	ENST00000336812	p.Gln794Glu	Missense Variant	0	0	0	rs767818074
4-24529558-A-C	ENST00000336812	p.Ser793Ala	Missense Variant	0	0	0	rs1226769527
4-24529560-TA-T	ENST00000336812	p.Tyr792IlefsTer9	Frameshift Variant	0	0	0	rs762778948	lc_lof
4-24529566-T-C	ENST00000336812	p.Lys790Arg	Missense Variant	0	0	0	rs750583373
4-24529569-G-A	ENST00000336812	p.Ser789Phe	Missense Variant	0	0	0	rs13772
4-24529571-T-C	ENST00000336812	p.Gln788Gln	Synonymous Variant	2	31412	0.000064	rs147939940
4-24529580-G-A	ENST00000336812	p.Ala785Ala	Synonymous Variant	0	0	0	rs141712215
4-24529581-G-A	ENST00000336812	p.Ala785Val	Missense Variant	0	0	0	rs755452081
4-24529583-A-G	ENST00000336812	p.Ile784Ile	Synonymous Variant	0	0	0	rs1261083108
4-24529586-G-A	ENST00000336812	p.Ile783Ile	Synonymous Variant	0	0	0	rs779164425
4-24529590-C-G	ENST00000336812	p.Arg782Pro	Missense Variant	0	0	0	rs150434662
4-24529590-C-T	ENST00000336812	p.Arg782His	Missense Variant	0	0	0	rs150434662
4-24529591-G-A	ENST00000336812	p.Arg782Cys	Missense Variant	0	0	0	rs377051074
4-24529597-A-G	ENST00000336812	p.Leu780Leu	Synonymous Variant	0	0	0	rs780799723
4-24529599-T-A	ENST00000336812	p.Gln779Leu	Missense Variant	0	0	0	rs1445002356
4-24529605-T-C	ENST00000336812	p.Lys777Arg	Missense Variant	0	0	0	rs1007926324
4-24529619-T-C	ENST00000336812	p.Pro772Pro	Synonymous Variant	2	31396	0.000064	rs745438739
4-24529626-T-C	ENST00000336812	p.Asn770Ser	Missense Variant	1	31392	0.000032	rs370160024
4-24529630-T-C	ENST00000336812	p.Ser769Gly	Missense Variant	0	0	0	rs778045646

Showing 1 to 20 of 323 entries

Previous1 2 3 4 5…17Next

Post-translational Modifications (PTMs)

Acetylation

Methylation

Phosphorylation

Sumoylation

Ubiquitination

Show entries

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
DHX15	O43143	Phosphorylation	128	Y128-p	LPHTPRYyDILkKRL	90.93	55368194
DHX15	O43143	Phosphorylation	13	Y13-p	RLDLGEDyPsGkkRA	90.93	461927
DHX15	O43143	Ubiquitination	132	K132-ub	PRYyDILkKRLQLPV	90.93	21172734
DHX15	O43143	Acetylation	132	K132-ac	PRYyDILkKRLQLPV	90.93	11323722
DHX15	O43143	Phosphorylation	142	Y142-p	LQLPVWEykDRFTDI	90.93	41285783
DHX15	O43143	Ubiquitination	143	K143-ub	QLPVWEykDRFTDIL	90.93	21172726
DHX15	O43143	Phosphorylation	15	S15-p	DLGEDyPsGkkRAGT	90.93	7320127
DHX15	O43143	Phosphorylation	155	S155-p	DILVRHQsFVLVGEt	90.93	15409295
DHX15	O43143	Phosphorylation	162	T162-p	sFVLVGEtGsGkTTQ	90.93	18909842
DHX15	O43143	Phosphorylation	164	S164-p	VLVGEtGsGkTTQIP	90.93	18909845
DHX15	O43143	Acetylation	166	K166-ac	VGEtGsGkTTQIPQW	90.93	14367197
DHX15	O43143	Ubiquitination	17	K17-ub	GEDyPsGkkRAGTDG	90.93	21172724
DHX15	O43143	Acetylation	17	K17-ac	GEDyPsGkkRAGTDG	90.93	461506
DHX15	O43143	Acetylation	18	K18-ac	EDyPsGkkRAGTDGK	90.93	3648333
DHX15	O43143	Methylation	18	K18-m1	EDyPsGkkRAGTDGK	90.93	58125934
DHX15	O43143	Acetylation	185	K185-ac	MRSLPGPkRGVACTQ	90.93	14367200
DHX15	O43143	Ubiquitination	230	K230-ub	FEDCSSAkTILkYMT	90.93	15387205
DHX15	O43143	Ubiquitination	234	K234-ub	SSAkTILkYMTDGML	90.93	21172732
DHX15	O43143	Phosphorylation	254	Y254-p	NDPLLERyGVIILDE	90.93	23098137
DHX15	O43143	Phosphorylation	266	T266-p	LDEAHERtLATDILM	90.93	31876007

Showing 1 to 20 of 61 entries

Previous1 2 3 4Next

Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Deletion - In Frame

Insertion - Frameshift

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

Show entries

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
DHX15	ENST00000336812	HKNPC-009-Tumor-SM-5ZSV1	upper_aerodigestive_tract	carcinoma	28777971	c.1608G>C	p.L536=	Substitution - coding silent	PATHOGENIC	.97074	Confirmed somatic variant	PMID: 28098136	metastasis	536
DHX15	ENST00000336812	HKNPC-009-Tumor-SM-5ZSV1	upper_aerodigestive_tract	carcinoma	28777967	c.1609A>T	p.M537L	Substitution - Missense	PATHOGENIC	.99115	Confirmed somatic variant	PMID: 28098136	metastasis	537
DHX15	ENST00000336812	J32_T	lung	carcinoma	28778877	c.1910-204C>T	p.?	Unknown	NEUTRAL	.03246	Confirmed somatic variant	PMID: N/A	NS	0
DHX15	ENST00000336812	YUZINO	skin	malignant_melanoma	28776299	c.1364C>T	p.S455F	Substitution - Missense	PATHOGENIC	.99097	Confirmed somatic variant	PMID: 22842228	metastasis	455
DHX15	ENST00000336812	LP6008280-DNA_A02	oesophagus	carcinoma	28780192	c.1081-1143T>C	p.?	Unknown	NEUTRAL	.00624	Confirmed somatic variant	PMID: N/A	primary	0
DHX15	ENST00000336812	1T66	oesophagus	carcinoma	28776649	c.328T>C	p.S110P	Substitution - Missense	PATHOGENIC	.8154	Confirmed somatic variant	PMID: N/A	primary	110
DHX15	ENST00000336812	TCGA-94-8491-01	lung	carcinoma	28780128	c.889G>T	p.A297S	Substitution - Missense	PATHOGENIC	.9939	Confirmed somatic variant	PMID: N/A	primary	297
DHX15	ENST00000336812	SJG-018	upper_aerodigestive_tract	carcinoma	28776366	c.1827C>T	p.A609=	Substitution - coding silent	NEUTRAL	.25918	Confirmed somatic variant	PMID: 27693639	primary	609
DHX15	ENST00000336812	PD11384a	breast	carcinoma	28779178	c.1910-1210G>A	p.?	Unknown	NEUTRAL	.00475	Confirmed somatic variant	PMID: N/A	NS	0
DHX15	ENST00000336812	PD_03	skin	carcinoma	28780000	c.342C>T	p.C114=	Substitution - coding silent	PATHOGENIC	.80352	Confirmed somatic variant	PMID: 24662767	NS	114
DHX15	ENST00000336812	PD9600a	breast	carcinoma	28776039	c.1248+1067A>T	p.?	Unknown	NEUTRAL	.01571	Confirmed somatic variant	PMID: N/A	primary	0
DHX15	ENST00000336812	0154_CRUK_PC_0154_T1_DNA	prostate	carcinoma	28777564	c.72-1249C>A	p.?	Unknown	NEUTRAL	.00095	Confirmed somatic variant	PMID: N/A	primary	0
DHX15	ENST00000336812	TCGA-G4-6625-01	large_intestine	carcinoma	28777020	c.702-4980T>G	p.?	Unknown	NEUTRAL	.01325	Confirmed somatic variant	PMID: 22810696	NS	0
DHX15	ENST00000336812	TCGA-B5-A11N-01	endometrium	carcinoma	28779656	c.396G>T	p.K132N	Substitution - Missense	PATHOGENIC	.91359	Confirmed somatic variant	PMID: N/A	primary	132
DHX15	ENST00000336812	TCGA-B5-A1N2-01	endometrium	carcinoma	28778306	c.2024G>C	p.R675P	Substitution - Missense	PATHOGENIC	.99383	Confirmed somatic variant	PMID: N/A	NS	675
DHX15	ENST00000336812	PCSI_0230_Pa_P_526	pancreas	carcinoma	28776462	c.702-739C>T	p.?	Unknown	NEUTRAL	.07254	Confirmed somatic variant	PMID: N/A	primary	0
DHX15	ENST00000336812	05-214BB2	prostate	carcinoma	28777560	c.*386A>T	p.?	Unknown	PATHOGENIC	.84643	Confirmed somatic variant	PMID: 26928463	metastasis	0
DHX15	ENST00000336812	TCGA-B0-5106-01	kidney	carcinoma	28779634	c.1655A>T	p.D552V	Substitution - Missense	PATHOGENIC	.9867	Variant of unknown origin	PMID: N/A	primary	552
DHX15	ENST00000336812	TCGA-CG-4306-01	stomach	carcinoma	28777298	c.1493C>T	p.T498I	Substitution - Missense	PATHOGENIC	.97764	Confirmed somatic variant	PMID: N/A	NS	498
DHX15	ENST00000336812	RK101_C01	liver	carcinoma	28778869	c.71+2088G>T	p.?	Unknown	NEUTRAL	.18128	Confirmed somatic variant	PMID: N/A	NS	0

Showing 1 to 20 of 288 entries

Previous1 2 3 4 5…15Next

dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF00270	DEAD	DEAD/DEAH box helicase	141-301	CL0023	P-loop_NTPase	Homo sapiens
PF00271	Helicase_C	Helicase conserved C-terminal domain	334-477	CL0023	P-loop_NTPase	Homo sapiens
PF04408	HA2	Helicase associated domain (HA2)	539-627			Homo sapiens
PF07717	OB_NTP_bind	Oligonucleotide/oligosaccharide-binding (OB)-fold	689-765	CL0021	OB	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Leukemia, Myelocytic, Acute	Neoplasms ;	0.773	0.241
Acute Myeloid Leukemia, M1	Neoplasms ;	0.773	0.241
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.773	0.241
NO RESULT FOUND

Description:	DEAH-box helicase 15 [Source:HGNC Symbol;Acc:HGNC:2738]
Synonyms:	PRP43, DBP1, PrPp43p, HRH2, PRPF43, DDX15
Other ID(s):	ENSG00000109606, HGNC:2738
Protein Accession Numbers:	ENST00000336812, NP_001349
Statistics:	ClinVar(1) gnomAD(323) COSMIC(288) PTM(61)

Classification of Clinicial Significance of ClinVar Data